The MID1 protein is a central player during development and in disease

Winter J, Basilicata MF, Stemmler M, Krauss S (2016)

Publication Type: Journal article

Publication year: 2016

Journal

Frontiers in Bioscience Frontiers in Bioscience

Book Volume: 21

Pages Range: 664-82

Abstract

Loss-of-function mutations in the MID1 gene cause a rare monogenic disorder, Opitz BBB/G syndrome (OS), which is characterized by malformations of the ventral midline. The MID1 gene encodes the MID1 protein, which assembles a large microtubule-associated protein complex. Intensive research over the past several years has shed light on the function of the MID1 protein as a ubiquitin ligase and regulator of mTOR signalling and translational activator. As a central player in the cell MID1 has been implicated in the pathogenesis of various other disorders in addition to OS including cancer and neurodegenerative diseases. Influencing the activity of the MID1 protein complex is a promising new strategy for the treatment of these diseases. In this review we will summarize the current knowledge about MID1, its involvement in the pathogenesis of OS and other diseases and possible strategies for therapy development.

Authors with CRIS profile

Marc Stemmler Lehrstuhl für Experimentelle Medizin mit dem Schwerpunkt Molekulare Pathogeneseforschung

Involved external institutions

Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) DE Germany (DE) Max-Planck-Institut für Immunbiologie und Epigenetik (MPI-IE) / Max Planck Institute of Immunobiology and Epigenetics DE Germany (DE) Johannes Gutenberg-Universität Mainz (JGU) DE Germany (DE)

How to cite

APA:

Winter, J., Basilicata, M.F., Stemmler, M., & Krauss, S. (2016). The MID1 protein is a central player during development and in disease. Frontiers in Bioscience, 21, 664-82.

MLA:

Winter, Jennifer, et al. "The MID1 protein is a central player during development and in disease." Frontiers in Bioscience 21 (2016): 664-82.

BibTeX: Download